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Gene: TPRKB

TPRKB (TP53RK binding protein)
EnsemblGeneIds (GRCh38): ENSG00000144034
EnsemblGeneIds (GRCh37): ENSG00000144034
OMIM: 608680, Gene2Phenotype
TPRKB is in 5 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene is red on Mackenzie's mission panel but the review itself is green and says "Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly." this is refering to 3 families all with homozygous missense, p.Lys65Met, p.Tyr149Cys, and p.Leu136Pro (PMIDs: 28805828, 30053862).

There has been at least one more individual reported PMID: 38628357: a three-year-old male with developmental delay, regression, microcephaly, distinctive facial features, skeletal abnormalities, and epilepsy. He also had relapsing nephrotic proteinuria exacerbated by upper respiratory tract infections and progressive renal function decline. He was compound heterozygous for p.(Ser76IlefsTer3) and c.247C>T, p.(Leu83Phe).

Severe early-onset and reported in at least 4 individuals (also green on mendeliome), upgrading to green here.
Created: 13 Dec 2024, 3:12 a.m. | Last Modified: 13 Dec 2024, 3:13 a.m.

Panel Version: 1.761

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 5, MIM# 617731

Publications

Created: 13 Dec 2024, 3:12 a.m.
Last Modified: 13 Dec 2024, 3:13 a.m.
Panel version: 1.761

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review

Phenotypes

Galloway-Mowat syndrome 5, MIM# 617731

Tags

for review

OMIM

608680

Clinvar variants

Variants in TPRKB

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TPRKB.

1 Jun 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPRKB was added gene: TPRKB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 30053862; 28805828 Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731

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